Freeman Sheldon Syndrome

Common Name(s)

Freeman Sheldon Syndrome, Cranio-Carpal-Tarsal Dystrophy, Craniocarpotarsal Dysplasia

Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations.  Freeman-Sheldon syndrome can be inherited as an autosomal dominant or autosomal recessive genetic trait. However, most cases occur randomly with no apparent cause (sporadically).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Freeman Sheldon Syndrome" for support, advocacy or research.

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Freeman-Sheldon Research Group, Inc.

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

Last Updated: 11 Jul 2011

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Freeman Sheldon Syndrome" for support, advocacy or research.

Logo
Freeman-Sheldon Research Group, Inc.

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

http://fsrgroup.org

Last Updated: 11 Jul 2011

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Freeman Sheldon Syndrome" returned 11 free, full-text research articles on human participants. First 3 results:

[Freeman-Sheldon syndrome - phenotype and course of disease on the base of two cases confirmed by molecular study].
 

Author(s): Robert Smigieł, Błażej Misiak, Katarzyna Przybył, Marek Michalski, Maria M Sąsiadek

Journal: Med Wieku Rozwoj. ;15(4):451-7.

 

Freeman-Sheldon syndrome is characterized by typical dysmorphic features of the face (microstomia with putting lips and H-shaped dimpling of the chin, giving the appearance of a whistling face) and symmetrical hands and feet defects (camptodactyly, joint contractures). The intelligence ...

Last Updated: 20 Apr 2012

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Freeman-Sheldon syndrome with cerebral venous thrombosis: is it a coincidence?
 

Author(s): D M Al-Sajee, O A Habbal, Z S Reyes

Journal: J Postgrad Med. ;56(1):37-9.

 

Last Updated: 15 Apr 2010

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Clinical characteristics and natural history of Freeman-Sheldon syndrome.
 

Author(s): David A Stevenson, John C Carey, Janice Palumbos, Ann Rutherford, Joyce Dolcourt, Michael J Bamshad

Journal: Pediatrics. 2006 Mar;117(3):754-62.

 

Freeman-Sheldon syndrome (FSS) is a rare, multiple congenital contracture syndrome that is nonetheless relatively well-known, because affected children have a striking appearance: it was historically called "whistling-face syndrome" because of involvement of the facial muscles. FSS ...

Last Updated: 2 Mar 2006

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Freeman Sheldon Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Anesthetic management of a patient with Freeman-Sheldon syndrome: case report and literature review.
 

Author(s): Lu-Lu Ma, Xiu-Hua Zhang, Yu-Guang Huang, Qi-Xiang Zhang

Journal: Chin. Med. J.. 2012 Jan;125(2):390-1.

 

The Freeman-Sheldon syndrome (FSS) is a rare congenital syndrome, characterized with myopathy and dysplasia. The musculoskeletal and soft-tissue manifestations often require orthopedic and plastic surgery. We reported a case of 8-year-old girl with FSS operated on for scoliosis.

Last Updated: 20 Feb 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions
 

Status: Recruiting

Condition Summary: Arthrogryposis; Craniofacial Abnormalities; Posttraumatic Stress Disorder; Depressive Disorder

 

Last Updated: 21 Oct 2013

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Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions
 

Status: Recruiting

Condition Summary: Arthrogryposis; Craniofacial Abnormalities

 

Last Updated: 22 Oct 2013

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Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
 

Status: Recruiting

Condition Summary: Arthrogryposis; Craniofacial Abnormalities

 

Last Updated: 21 Oct 2013

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